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De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

Authors

  • Stéphanie Guey INSERM UMR-S1161, Génétique et physiopathologie des maladies cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France PubMed articlesGoogle scholar articles
  • Lou Grangeon INSERM UMR-S1161, Génétique et physiopathologie des maladies cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France PubMed articlesGoogle scholar articles
  • Francis Brunelle AP-HP Department of Pediatric Radiology, University Hospital Necker-Enfants malades, Paris Descartes University, Paris, France Department of Neuroradiology, University Hospital Necker-Enfants malades, Paris Descartes University, Paris, France PubMed articlesGoogle scholar articles
  • Françoise Bergametti INSERM UMR-S1161, Génétique et physiopathologie des maladies cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France PubMed articlesGoogle scholar articles
  • Jeanne Amiel AP-HP, Department of Genetic, University Hospital Necker-Enfants malades, Paris, France Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France PubMed articlesGoogle scholar articles
  • Stanislas Lyonnet AP-HP, Department of Genetic, University Hospital Necker-Enfants malades, Paris, France Paris Descartes University, Sorbonne Paris Cité, Imagine Institute, Paris, France PubMed articlesGoogle scholar articles
  • Audrey Delaforge AP-HP, Service de génétique moléculaire neurovasculaire, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l’œil, Groupe Hospitalier Saint-Louis Lariboisière, Paris, France PubMed articlesGoogle scholar articles
  • Minh Arnould INSERM UMR-S1161, Génétique et physiopathologie des maladies cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France PubMed articlesGoogle scholar articles
  • Béatrice Desnous AP-HP, Department of Pediatric Neurology, Robert-Debré University Hospital, Paris, France PubMed articlesGoogle scholar articles
  • Céline Bellesme AP-HP, Department of Pediatric Neurology, Bicêtre University Hospital, Le Kremlin Bicêtre, France PubMed articlesGoogle scholar articles
  • Dominique Hervé INSERM UMR-S1161, Génétique et physiopathologie des maladies cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France AP-HP, Groupe Hospitalier Saint-Louis Lariboisière, Service de Neurologie, Paris, France PubMed articlesGoogle scholar articles
  • Jan C Schwitalla Department of Neurology, Alfried-Krupp-Hospital Essen, Essen, Germany PubMed articlesGoogle scholar articles
  • Markus Kraemer Department of Neurology, Alfried-Krupp-Hospital Essen, Essen, Germany PubMed articlesGoogle scholar articles
  • Elisabeth Tournier-Lasserve INSERM UMR-S1161, Génétique et physiopathologie des maladies cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France AP-HP, Service de génétique moléculaire neurovasculaire, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l’œil, Groupe Hospitalier Saint-Louis Lariboisière, Paris, France PubMed articlesGoogle scholar articles
  • Manoelle Kossorotoff French Center for Pediatric Stroke, University Hospital Necker-Enfants malades, Paris, France AP-HP, French Center for Pediatric Stroke and Pediatric Neurology Department, University Hospital Necker-Enfants malades, Paris, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Manoelle Kossorotoff, AP-HP, French Center for Pediatric Stroke and Pediatric Neurology Department, University Hospital Necker-Enfants malades, Paris 75014, France; manoelle.kossorotoff{at}nck.aphp.fr
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Citation

Guey S, Grangeon L, Brunelle F, et al
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

Publication history

  • Received November 4, 2016
  • Revised January 12, 2017
  • Accepted January 17, 2017
  • First published March 25, 2017.
Online issue publication 
July 25, 2017

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